Abstract:

Peregrine Genomics has innovative technologies that combines AI and third-generation sequencing. Our technologies enable accurate and affordable genetic diagnosis in real-time anywhere on earth. 

Intro:

Precision medicine is the most promising frontier of modern medicine that leverages big data and advanced analytics, such as artificial intelligence, to deliver accurate and effective healthcare to society on a personalized basis. Individualized big biomedical data collection has been revolutionized by portable devices such as smartphones. However, genomic data gathering has been a bottleneck. Current genetic diagnosis by Next-Generation Sequencing (NGS) requires significant investments, which makes it inaccessible to regular clinics. More importantly, it can’t detect many types of genetic variations that are relevant to human health. Peregrine Genomics has proprietary technologies that are well-positioned to disrupt the genetic diagnostics market by combining machine learning with targeted sequence and third-generation sequencing. For the first time, our technologies enable accurate and cost-effective sequencing of disease-relevant genes in real-time anywhere on earth.

Unique solutions

Our state-of-the-art proprietary sequencing technology improves detection sensitivity and reduces cost. Unlike current solutions, our technology has no bias in gene coverage and no compromise on DNA length or data throughput. Our technology works with routine clinical samples (e.g., a simple blood draw) and provides ultra-long native DNA reads (up to 1000X traditional methods) that can resolve any type of genetic variants. The technology is highly amenable to multiplexing and is customizable to any gene panels (e.g., genetic disease or cancer gene panels). Our targeted sequencing workflow can run on the pocket-sized Nanopore MinION sequencer connected to a laptop. Sequencing data are analyzed in real-time by a set of novel analysis tools based on machine learning algorithms and generate the genetic variants information on the spot. With the help of a portable hands-free automatic sample preparation device, the entire sequencing setup can be brought in a briefcase to remote locations and run by any clinical technician without specialized training in NGS.

Milestones

Peregrine Genomics is a finalist of the 2019 Taqadam Startup Accelerator Program of Saudi Arabia. We successfully conducted proof-of-concept clinical studies with leading Saudi hospitals and showed that our technology provides a fast and cost-effective solution to diagnose genetic diseases, including sickle cell disease and Batter syndrome. Furthermore, we solved an undiagnosed Saudi founder disease, for which current market solutions failed to find the mutation. We have filed five international patent applications and published four peer-reviewed publications in international journals.  

Our vision is to conquer the technical hurdles in genetic diagnostics and provide enabling technologies to healthcare providers to improve human health.